RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: beta-ketothiolase deficiency
Accession: DOID:14723
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Definition: An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. (DO)
Synonyms: exact_synonym: 2-alpha-methyl-3-hydroxybutyricacidemia; 2-methyl-3-hydroxybutyric acidemia; 2-methyl-3-hydroxybutyricacidemia; 3-Alpha-Ktd Deficiency; 3-Alpha-Oxothiolase Deficiency; 3-KTD DEFICIENCY; 3-Methylhydroxybutyric Acidemia; 3-alpha-ketothiolase deficiency; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-Methylacetoacetic Aciduria; Alpha-methylacetoaceticaciduria; B-Ketothiolase Deficiency; DEFICIENCY OF ACETYL-COA ACETYLTRANSFERASE; MAT DEFICIENCY; T2 deficiency; mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency - potassium stimulated; mitochondrial acetoacetyl-CoA thiolase deficiency; peroxisomal thiolase deficiency
primary_id: MESH:C535434
alt_id: MIM:203750
xref: GARD:872 ; NCI:C98841 ; ORDO:134
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Acat1
acetyl-CoA acetyltransferase 1
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
OMIM ClinVar
PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 PMID:7173255 PMID:7728148 PMID:7728155 PMID:7749408 PMID:7907600 PMID:8103405 PMID:9090533 PMID:9536098 PMID:9700610 PMID:9744475 PMID:11161836 PMID:11161837 PMID:11914035 PMID:12754704 PMID:14518824 PMID:15128923 PMID:15877211 PMID:16199547 PMID:17236799 PMID:17576681 PMID:18511318 PMID:19763152 PMID:20046049 PMID:20156697 PMID:20157782 PMID:20307669 PMID:20488739 PMID:21669895 PMID:22406018 PMID:23430882 PMID:23920042 PMID:23958592 PMID:24516753 PMID:24517888 PMID:25559898 PMID:25640679 PMID:25741868 PMID:27264805 PMID:27748876 PMID:27928777 PMID:28220263 PMID:28255778 PMID:28361105 PMID:28393214 PMID:28492532 PMID:28689740 PMID:28726122 PMID:28875337 PMID:29402417 PMID:29624230 PMID:30393371 PMID:30835345 PMID:31156707 PMID:31268215 PMID:32778825 PMID:33708533 PMID:34001203 PMID:34298581 PMID:36787440 More...
NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056
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Acat2
acetyl-CoA acetyltransferase 2
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar
PMID:25741868 PMID:31268215
NCBI chrNW_004936489:11,255,871...11,273,848
Ensembl chrNW_004936489:11,255,871...11,283,216
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar
PMID:28492532
NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
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CUNH11orf65
chromosome unknown C11orf65 homolog
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar
PMID:28492532
NCBI chrNW_004936551:305,617...343,369
Ensembl chrNW_004936551:305,611...351,063
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Exph5
exophilin 5
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar
PMID:28492532
NCBI chrNW_004936551:195,321...268,842
Ensembl chrNW_004936551:195,134...270,769
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LOC101974563
protein NPAT
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar
PMID:28492532
NCBI chrNW_004936551:534,879...585,674
Ensembl chrNW_004936551:534,846...587,604
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Poglut3
protein O-glucosyltransferase 3
ISO
ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
ClinVar
PMID:28492532
NCBI chrNW_004936551:273,275...297,877
Ensembl chrNW_004936551:274,303...297,871
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